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Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata |
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| Authors: | N V Whittock L Izatt S L Simpson-Dent K Becker S H Wakelin |
| Institution: | 1. Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK;2. Department of Clinical and Community Genetics, Kennedy-Galton Centre, North West London Hospitals NHS Trust, Watford Road, Harrow, UK;3. Department of Dermatology, St Mary's Hospital, Praed Street, London, UK |
| Abstract: | |
| Keywords: | cholesterol metabolism Conradi–Hünermann–Happle mutation detection skeletal dysplasia |